Linked Data
ClinVar Variation Id:
322744
ClinVar RCV Id:
RCV000406557
dbSNP Id:
rs886052854
gnomAD v3:
17-3513843-C-G
gnomAD v4:
17-3513843-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3513843C>G , CM000679.2:g.3513843C>G | GRCh38 |
| NC_000017.10:g.3417137C>G , CM000679.1:g.3417137C>G | GRCh37 |
| NC_000017.9:g.3363887C>G | NCBI36 |
| NG_032144.2:g.49153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.*74G>C (TRPV3) MANE Select | ENSP00000461518.2:n.*74G>C | |
| ENST00000301365.8:c.*74G>C (TRPV3) | ENSP00000301365.4:n.*74G>C | |
| ENST00000381913.8:c.1709G>C (TRPV3) | ||
| ENST00000541913.5:c.-505G>C (SPATA22) | ENSP00000441920.1:n.-505G>C | |
| ENST00000571139.5:c.*2442G>C (TRPV3) | ENSP00000458187.1:n.*2442G>C | |
| ENST00000573539.5:c.*2460G>C (TRPV3) | ENSP00000458239.1:n.*2460G>C | |
| ENST00000577016.5:c.968G>C (TRPV3) | ||
| ENST00000616411.4:c.2402G>C (TRPV3) | ENSP00000483947.1:n.2402G>C | |
| NM_001258205.1:c.*74G>C (TRPV3) | NP_001245134.1:n.*74G>C | |
| NM_145068.3:c.*74G>C (TRPV3) | NP_659505.1:n.*74G>C | |
| XM_005256829.1:c.-505G>C (SPATA22) | XP_005256886.1:n.-505G>C | |
| XM_005256830.1:c.-505G>C (SPATA22) | XP_005256887.1:n.-505G>C | |
| XM_011523694.1:c.*74G>C (TRPV3) | XP_011521996.1:n.*74G>C | |
| XM_011523695.1:c.*74G>C (TRPV3) | XP_011521997.1:n.*74G>C | |
| XR_934004.1:n.2521G>C (TRPV3) | ||
| NM_001321336.1:c.-505G>C (SPATA22) | NP_001308265.1:n.-505G>C | |
| NM_001321337.1:c.-505G>C (SPATA22) | NP_001308266.1:n.-505G>C | |
| NM_001258205.2:c.*74G>C (TRPV3) | NP_001245134.1:n.*74G>C | |
| NM_145068.4:c.*74G>C (TRPV3) MANE Select | NP_659505.1:n.*74G>C | |
| NM_001321336.2:c.-505G>C (SPATA22) | NP_001308265.1:n.-505G>C | |
| NM_001321337.2:c.-505G>C (SPATA22) | NP_001308266.1:n.-505G>C |